Gene
rdh12
- ID
- ZDB-GENE-040718-9
- Name
- retinol dehydrogenase 12
- Symbol
- rdh12 Nomenclature History
- Previous Names
-
- wu:fj43a10
- zgc:92430
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in Leber congenital amaurosis 13 and Leber hereditary optic neuropathy. Is expressed in several structures, including brain; eye; gut; heart; and skeletal muscle cell. Orthologous to human RDH11 (retinol dehydrogenase 11) and RDH12 (retinol dehydrogenase 12).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92430 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Sarkar et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Leber congenital amaurosis 13 | Alliance | Leber congenital amaurosis 13 | 612712 |
| ?Retinal dystrophy, juvenile cataracts, and short stature syndrome | 616108 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | NAD(P)-binding domain superfamily | Short-chain dehydrogenase/reductase SDR |
|---|---|---|---|
|
UniProtKB:Q6DG78
|
319 |
Interactions and Pathways
No data available
Plasmids
No data available